Results 21 to 30 of about 1,452 (104)

Prenatal Diagnosis of Proteus Syndrome: About a Case

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Proteus syndrome (PS) is a rare disorder (< 1/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the AKT1 gene.
Luana Giovannangeli, Virginie Magry, Florence Jobic, Kahia Messaoudi, Walaa Darwiche, Marianne Perriere, Alexis Billes, Ségolène Delmas Lanta, Alice Masurel, Gilles Morin, Guillaume Jedraszak   +10 more
wiley   +1 more source

Preadult Living Conditions During Sociopolitical Transition in Quebrada Chupacigarro Cemetery (500–400 bc), Supe Valley, Peru: Childhood Morbidity and Sociopolitical Change in Prehistoric Central Andes

International Journal of Osteoarchaeology, Volume 35, Issue 2, March/April 2025.
ABSTRACT Through a detailed assessment of nonspecific stress markers in 67 individuals (47 under 8 years old), this paper investigates the health conditions of preadults in Quebrada Chupacigarro Cemetery (QCC), North‐Central Coast of Peru, during the transition between the Middle and Late Formative periods (500–400 bc), a critical time of ...
Luis Pezo‐Lanfranco, Maria Inés Barreto, José Filippini, Karoline Silva, Aldemar Crispín, Marco Machacuay, Pedro Novoa, Ruth Shady   +7 more
wiley   +1 more source

Evidence of Pellagra on 19th Century Human Crania From Northern Italy by Combining Stable Isotope and Paleopathological Analyses

International Journal of Osteoarchaeology, Volume 35, Issue 2, March/April 2025.
ABSTRACT Pellagra is a disease caused by a nutritional deficiency, with fatal outcome due to multiple‐organ failure, that affected European rural areas until the early decades of the 20th century, especially Veneto region (Italy). At the skeletal level, previous studies pointed out that pathological signs left by the disease are generic and typical of ...
Nicola Carrara, Gregorio Dal Sasso, Anna Addis, Anna Domanico, Nereo Preto, Elisa Saler, Telmo Pievani, Gilberto Artioli, Cinzia Scaggion   +8 more
wiley   +1 more source

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Glycerophospholipids (GPLs) are the main lipid components of cellular membranes. They are implicated in membrane structure, vesicle trafficking, neurotransmission, and cell signalling. GPL molecules are amphiphilic, organized around the three carbons of glycerol. Positions sn‐1 and sn‐2 are each esterified to a fatty acid (FA).
Foudil Lamari, Francis Rossignol, Grant A. Mitchell   +2 more
wiley   +1 more source

High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect

Human Mutation, Volume 2025, Issue 1, 2025.
Background: The autosomal recessive metabolic disorder hyperostosis–hyperphosphatemia syndrome (HHS) is characterized by hyperphosphatemia, hyperostosis, and recurrent bone lesions. Patients may develop ectopic and vascular calcification and may present diaphyseal pain of the long bones that is misdiagnosed as osteomyelitis.
Maryam Sedghi, Elika Esmaeilzadeh Gharehdaghi, Vahid Ziaee, Farzaneh Abbasi, Hamid Reza Aghaei Meybodi, Elina Smiley, Mehrzad Mehdizadeh, Seyyed Reza Raeeskarami, Nahid Aslani, Sahar Naderi Shiran, Mehdi Vafadar, Mahsa M. Amoli, Aziz ur Rehman Aziz   +12 more
wiley   +1 more source

Multiomics Identifies Potential Biomarkers in Ankylosing Spondylitis Bone Formation

Human Mutation, Volume 2025, Issue 1, 2025.
Objective: Ankylosing spondylitis (AS) is a long‐term inflammatory condition characterized by intricate pathogenesis and significant genetic predisposition. Current treatment methods cannot completely halt the progression of the disease. The purpose of this research is to discover possible therapeutic targets for AS by integrating Mendelian ...
Lu Yang, Chunping Bo, Meiqi Chen, Bozhen Chen, Rui Zeng, Yingyan Zhou, Haifang Du, Xiaohong He, Minghua Ren   +8 more
wiley   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Acquired Hyperostosis Syndrome [PDF]

, 2020
openaire   +1 more source

Zoledronic Acid in the Management of Melorheostosis of Radius and Ulna - A Rare Case Report with Literature Review. [PDF]

J Orthop Case Rep
Mallya S, Das R, Boruah DK, Puranik A.
europepmc   +1 more source

Case Report: Sapho syndrome complicated by chest pain successfully treated with relocation. [PDF]

Front Immunol
Zhang Y, Chen H, Guan S, Qu X.
europepmc   +1 more source